ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2047T>C (p.Ser683Pro)

gnomAD frequency: 0.00001  dbSNP: rs878854080
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232288 SCV000285272 benign Tuberous sclerosis 2 2023-11-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV001014180 SCV001174862 likely benign Hereditary cancer-predisposing syndrome 2022-09-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome-Nilou Lab RCV000232288 SCV002039613 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003311720 SCV004010423 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing TSC2: BP4

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